1q21.1 Duplication Syndrome and Anorectal Malformations: A Literature Review and a New Case

1q21.1 Duplication Syndrome and Anorectal Malformations: A Literature Review and a New Case

Background: Anorectal malformations (ARMs) are a common pediatric surgical problem with an incidence of 1:1500 to 1:5000 live births. The phenotypical spectrum extends from anal stenosis to imperforate anus with or without anal fistula to persistent cloaca. They can manifest as either non-syndromic...

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Bibliographic Details
Main Authors: Maria Minelli, Chiara Palka Bayard de Volo, Melissa Alfonsi, Serena Capanna, Elisena Morizio, Maria Enrica Miscia, Gabriele Lisi, Liborio Stuppia, Valentina Gatta
Format: Article
Language:English
Published: MDPI AG 2025-01-01
Series:Current Issues in Molecular Biology
Subjects:
ARMs
CMA
1q21.1 duplication
Online Access:https://www.mdpi.com/1467-3045/47/1/26
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